| Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia. | |
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MedLine Citation:
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PMID: 22050868 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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OBJECTIVE: To delineate the phenotypic and molecular spectrum of patients with a syndromic variant of severe congenital neutropenia (SCN) due to mutations in the gene encoding glucose-6-phosphatase catalytic subunit 3 (G6PC3). STUDY DESIGN: Patients with syndromic SCN were characterized for associated malformations and referred to us for G6PC3 mutational analysis. RESULTS: In a cohort of 31 patients with syndromic SCN, we identified 16 patients with G6PC3 deficiency including 11 patients with novel biallelic mutations. We show that nonhematologic features of G6PC3 deficiency are good predictive indicators for mutations in G6PC3. Additionally, we demonstrate genetic variability in this disease and define novel features such as growth hormone deficiency, genital malformations, disrupted bone remodeling, and abnormalities of the integument. G6PC3 mutations may be associated with hydronephrosis or facial dysmorphism. The risk of transition to myelodysplastic syndrome/acute myeloid leukemia may be lower than in other genetically defined SCN subgroups. CONCLUSIONS: The phenotypic and molecular spectrum in G6PC3 deficiency is wider than previously appreciated. The risk of transition to myelodysplastic syndrome or acute myeloid leukemia may be lower in G6PC3 deficiency compared with other subgroups of SCN. |
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Authors:
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Kaan Boztug; Philip S Rosenberg; Marie Dorda; Siddharth Banka; Thomas Moulton; Julie Curtin; Nima Rezaei; John Corns; Jeffrey W Innis; Zekai Avci; Hung Chi Tran; Isabelle Pellier; Paolo Pierani; Rachel Fruge; Nima Parvaneh; Setareh Mamishi; Rajen Mody; Phil Darbyshire; Jayashree Motwani; Jennie Murray; George R Buchanan; William G Newman; Blanche P Alter; Laurence A Boxer; Jean Donadieu; Karl Welte; Christoph Klein |
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Publication Detail:
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Type: Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't Date: 2011-11-01 |
Journal Detail:
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Title: The Journal of pediatrics Volume: 160 ISSN: 1097-6833 ISO Abbreviation: J. Pediatr. Publication Date: 2012 Apr |
Date Detail:
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Created Date: 2012-03-19 Completed Date: 2012-05-07 Revised Date: 2013-04-26 |
Medline Journal Info:
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Nlm Unique ID: 0375410 Medline TA: J Pediatr Country: United States |
Other Details:
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Languages: eng Pagination: 679-683.e2 Citation Subset: AIM; IM |
Copyright Information:
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Copyright © 2012 Mosby, Inc. All rights reserved. |
Affiliation:
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Research Center for Molecular Medicine of the Austrian Academy of Sciences (CeMM), Vienna, Austria. kboztug@cemm.oeaw.ac.at |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Child Female Genotype Glucose-6-Phosphatase / genetics* Glycogen Storage Disease Type I / genetics* Humans Infant Male Neutropenia / congenital*, genetics Phenotype |
| Chemical | |
Reg. No./Substance:
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EC 3.1.3.9/Glucose-6-Phosphatase; EC 3.1.3.9./G6PC3 protein, human |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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